Purine nucleoside phosphorylase deficiency

Purine nucleoside phosphorylase deficiency

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 11044
ICD10 = ICD10|D|81|5|d|80
ICD9 = ICD9|277.2
ICDO =
OMIM = 164050
MedlinePlus =
eMedicineSubj = ped
eMedicineTopic = 1957
MeshID =

Purine nucleoside phosphorylase deficiency, often called PNP-deficiency, is a very rare autosomal recessive metabolic disorder which results in severe combined immunodeficiency.

Causes

It is to a disruption of the purine nucleoside phosphorylase enzymatic pathway.

This enzyme is required for purine degradation. A deficiency of it also causes T-cell deficiency.cite journal |author=Snyder FF, Jenuth JP, Mably ER, Mangat RK |title=Point mutations at the purine nucleoside phosphorylase locus impair thymocyte differentiation in the mouse |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue=6 |pages=2522–7 |year=1997 |month=March |pmid=9122228 |pmc=20121 |doi= |url=http://www.pnas.org/cgi/pmidlookup?view=long&pmid=9122228] cite journal |author=Toro A, Grunebaum E |title=TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice |journal=J. Clin. Invest. |volume=116 |issue=10 |pages=2717–26 |year=2006 |month=October |pmid=16964310 |pmc=1560347 |doi=10.1172/JCI25052 |url=http://dx.doi.org/10.1172/JCI25052]

In contrast to adenosine deaminase deficiency (another deficiency of purine metabolism), there is minimal disruption to B cells.cite web |url=http://www.emedicine.com/ped/TOPIC1957.HTM |title=eMedicine - Purine Nucleoside Phosphorylase Deficiency : Article by Alan P Knutsen |format= |work= |accessdate=]

ymptoms

In addition to the symptoms associated with immunodeficiency, such as depletion of T-cells, decline of lymphocyte activity, and an abrupt proliferation of both benign and opportunistic infections, PNP-deficiency is often characterized by the developement of autoimmune disorders. Lupus-erythematosis, autoimmune hemolytic anemia, and idiopathic thrombocytopenic purpura have been reported with PNP-deficiency.cite journal |author=Markert ML |title=Purine nucleoside phosphorylase deficiency |journal=Immunodefic Rev. |volume=3 |issue=1 |pages=45–81 |year=1991 |pmid=1931007 ]

Neurological symptoms, such as developmental decline, hypotonia, and mental retardation have also been reported.

Genetic prevalence

PNP-deficiency is extremely rare. Only 33 patients with the disorder in the United States have been documented.

References


Wikimedia Foundation. 2010.

Игры ⚽ Поможем написать курсовую

Look at other dictionaries:

  • Purine nucleoside phosphorylase — Not to be confused with polynucleotide phosphorylase. purine nucleoside phosphorylase Identifiers EC number 2.4.2.1 CAS number …   Wikipedia

  • Nucleoside phosphorylase — Nucleoside phosphorylase, also known as NP, is a human gene.cite web | title = Entrez Gene: NP nucleoside phosphorylase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=4860| accessdate = ] PBB Summary… …   Wikipedia

  • Purine metabolism — Many organisms have metabolic pathways to synthesize and break down purines.ynthesisPurines are biologically synthesized as nucleotides (bases attached to ribose 5 phosphate). The committed step is amidophosphoribosyltransferase.Both adenine and… …   Wikipedia

  • Adenosine Monophosphate Deaminase Deficiency type 1 — Classification and external resources Adenosine monophosphate OMIM 102770 …   Wikipedia

  • Dihydropyrimidine dehydrogenase deficiency — Classification and external resources OMIM 274270 DiseasesDB 29817 MeSH …   Wikipedia

  • Complement deficiency — Classification and external resources ICD 10 D84.1 ICD 9 279.8 …   Wikipedia

  • Complement 2 deficiency — Classification and external resources ICD 10 D84.1 ICD 9 279.8 …   Wikipedia

  • Complement 3 deficiency — Classification and external resources OMIM 120700 DiseasesDB 1869 Complement 3 deficiency is a genetic condition affecting complement …   Wikipedia

  • Complement 4 deficiency — Classification and external resources OMIM 120820 DiseasesDB 1873 Complement 4 deficiency is a genetic condition affecting complement …   Wikipedia

  • Purin-Nukleosid-Phosphorylase — Vorhandene Strukturdaten: s. UniProt Masse/Län …   Deutsch Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”